BRIP1

BRIP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1T15, 1T29, 3AL3
Identifiers
Aliases	BRIP1, BACH1, FANCJ, OF, BRCA1 interacting protein C-terminal helicase 1, BRCA1 interacting helicase 1
External IDs	OMIM: 605882; MGI: 2442836; HomoloGene: 32766; GeneCards: BRIP1; OMA:BRIP1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	61,863,559 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	86,092,019 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; gonad; ; testicle; ; secondary oocyte; ; ganglionic eminence; ; stromal cell of endometrium; ; bone marrow; ; bone marrow cell; ; trabecular bone; ; left testis;
	Top expressed in
	zygote; ; primary oocyte; ; genital tubercle; ; tail of embryo; ; secondary oocyte; ; yolk sac; ; morula; ; gray matter layer of cerebellum; ; ventricular zone; ; spermatid;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; 4 iron, 4 sulfur cluster binding; nucleotide binding; helicase activity; iron-sulfur cluster binding; DNA helicase activity; metal ion binding; hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; protein binding; nucleic acid binding; hydrolase activity; ATP binding; chromatin binding;
Cellular component	cytoplasm; nuclear membrane; nucleoplasm; nucleus;
Biological process	regulation of transcription by RNA polymerase II; DNA damage checkpoint signaling; cellular response to DNA damage stimulus; cellular response to vitamin; nucleobase-containing compound metabolic process; negative regulation of cell population proliferation; DNA replication; DNA duplex unwinding; double-strand break repair; DNA repair; homologous chromosome pairing at meiosis; spermatogenesis; spermatogonial cell division; spermatid development; male gonad development; response to toxic substance; negative regulation of gene expression; meiotic DNA double-strand break processing involved in reciprocal meiotic recombination; chiasma assembly; cellular response to hypoxia; seminiferous tubule development; cellular response to angiotensin; double-strand break repair involved in meiotic recombination; nucleotide-excision repair; regulation of signal transduction by p53 class mediator;
	Sources:Amigo / QuickGO
Orthologs
	83990
	237911
	ENSG00000136492
	ENSMUSG00000034329
	Q9BX63
	Q5SXJ3
	NM_032043
	NM_178309
	NP_114432
	NP_840094
	Wikidata
View/Edit Human	View/Edit Mouse

Fanconi anemia group J protein (FANCJ) is a protein that in humans is encoded by the BRCA1-interacting protein 1 (BRIP1) gene. The protein is a 5'-3' DNA helicase (EC: 5.2.6.3) and ATPase that repairs interstrand crosslinks (ICLs), double-stranded breaks (DSBs) and guanine quadruplexes (G4) through the Fanconi anemia (FA) pathway. Damage or depletion of BRIP1 has been associated with various cancers as well as Fanconi anemia.